Multidisciplinary Evaluation and a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
Pilot Study of Ethiology Research by a Multidisciplinary Evaluation Then a Genome-wide Analysis in a Cohort of Idiopathic Short Stature Patients
University Hospital, Montpellier
200 participants
Mar 16, 2026
INTERVENTIONAL
Conditions
Summary
This trial aims to evaluate the prevalence of idiopathic short stature among children whose growth is above -2,5SD (AFPA- CRESS/Inserm -CompuGroup Medical 2018 curve) or above -2SD of the parental target size (taking child gender into account), after exclusion of classical pediatric and endocrinologic pathologies, and to evaluate the prevalence of monogenic causes of idiopathic short stature. A two-step study will be performed. The first one consists in a standardized multidisciplinary clinico-radiological evaluation of those children to evaluate the real prevalence of idiopathic short stature (ISS) among these patients. The second step consists in performing a whole genome sequencing analysis in the 30 first patients for whom the diagnosis of ISS is confirmed.
Eligibility
Inclusion Criteria9
- Children aged 4 to 18 years
- sexes
- Height less than -2.5DS (standard deviations of the AFPA- CRESS/Inserm -CompuGroup Medical 2018 curve) or less than -2DS of the TCP (parental target height, corresponding to the average of parental heights +6.5 cm in boys, -6.5 cm in girls)
- Normal karyotype + FISH SHOX for girls
- Previously performed:celiac disease antibodies, WBC-platelets, CRP, blood ionogram, creatinine, blood calcium, blood phosphorus, ASAT, ALAT, PAL, PTH, TSH, T4L, growth hormone test normal according to the standards of the laboratory of the CHU of Montpellier
- Acceptance of X-rays, in addition to those already performed as part of the care, which will not be repeated if necessary: spine front and profile, pelvis front, 1 upper limb front, 1 lower limb front F, hands and feet front
- Acceptance of photographs: whole body with underwear, face face and profile, 2 faces of hands; feet, face
- Acceptance of blood samples for the child and the 2 parents (trio)
- Consent signed by both parents
Exclusion Criteria4
- Intellectual disability (IQ below 70)
- Cardiac, renal, digestive or cerebral malformation, cleft lip or palate, hearing or visual impairment, epilepsy
- Renal or cardiac insufficiency, digestive or chronic inflammatory pathology
- Previously established genetic diagnosis
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Interventions
1. pre-inclusion consultation 2. inclusion consultation * personal history * height, weight, cranial perimeters, and spans of both parents * clinical examination of the child * photographs of the child * additional X-rays
multidisciplinary team (geneticist, orthopedist, radiologist, pediatric endocrinologist) which will assign each patient an orientation: * either to the non idiopathic short stature group (syndromic diagnostic orientation or to a constitutional bone pathology) * or to the authentified idiopathic short stature group
For the first 30 patients included in the authentified idiopathic short stature group, a whole genome analysis in trio (child + parents) will be performed as part of the research. For these 30 patients in the authentified idiopathic short stature group, the teleconsultation carried out for the submission of the multidisciplinary consultation meeting conclusions will make it possible to establish the family tree, to explain the interest and limits of the analysis, and to submit the consents dedicated to the genetic analysis.
Locations(1)
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NCT05858606